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24216005: Congenital absence (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
40644015 Congenital absence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
753828014 Congenital absence (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital absence Is a Aplasia true Inferred relationship Some
Congenital absence Is a Congenital anomaly false Inferred relationship Some
Congenital absence Is a Congenital malformation false Inferred relationship Some
Congenital absence Is a Absence (morphologic abnormality) false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
WNT4 Mullerian aplasia and ovarian dysfunction Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of spine Associated morphology False Congenital absence Inferred relationship Some 3
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Associated morphology False Congenital absence Inferred relationship Some 7
Congenital absence of epididymis Associated morphology False Congenital absence Inferred relationship Some 4
Aicardi's syndrome Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of vas deferens Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of labium minor Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of vulva Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of sacral vertebra Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of hand (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of rib Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of calcaneus Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of lobe of liver Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of centrum of thoracic vertebra Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of zygomatic bone Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of vomer Associated morphology False Congenital absence Inferred relationship Some 2
Absence of primary mitral chordae tendinae (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of arch of lumbar vertebra Associated morphology False Congenital absence Inferred relationship Some 2
Total congenital alopecia Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of salivary gland Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of ovary Associated morphology False Congenital absence Inferred relationship Some 2
Fusion of lobes of lung Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of nasal septum Associated morphology False Congenital absence Inferred relationship Some 2
Vertical alopecia (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of alisphenoid bone Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of thoracic vertebra Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of supraoccipital bone Associated morphology False Congenital absence Inferred relationship Some 2
Agenesis of corpus callosum Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of eyelash Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of intestinal tract Associated morphology False Congenital absence Inferred relationship Some 2
Absent testicle (congenital) Associated morphology False Congenital absence Inferred relationship Some 3
Agenesis of fourth and fifth metatarsals Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of fourth and fifth metatarsals Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of tricuspid valve Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of small intestine Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of arch of thoracic vertebra Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of tibia and fibula Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of tibia and fibula Associated morphology False Congenital absence Inferred relationship Some 4
Congenital absence of renal papilla Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of aorta Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of cervical vertebra Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of frontal bone Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of clitoris (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of urinary bladder Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of upper arm AND forearm Associated morphology False Congenital absence Inferred relationship Some 5
Congenital absence of lacrimal drainage structure (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of external ear Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of metatarsal bone Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of auricle with stenosis of auditory canal Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of superior vena cava Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of pulmonary trunk with confluent pulmonary arteries (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of membranous labyrinth Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of right pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of exoccipital bone Associated morphology False Congenital absence Inferred relationship Some 2
Congenital fibular deficiency type III Associated morphology False Congenital absence Inferred relationship Some 2
Pulmonary atresia with absent pulmonary artery Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of metacarpal bone Associated morphology False Congenital absence Inferred relationship Some 2
Holoanencephaly (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of esophagus Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of subclavian artery Associated morphology False Congenital absence Inferred relationship Some 2
Monorchism Associated morphology False Congenital absence Inferred relationship Some 3
Congenital absence of thumb Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of germinal epithelium of testes (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
Absent tricuspid leaflet Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of alimentary tract Associated morphology False Congenital absence Inferred relationship Some 2
Complete congenital absence of pulmonary trunk with complete congenital absence of left pulmonary artery (disorder) Associated morphology False Congenital absence Inferred relationship Some 3
Congenital fibular deficiency type II Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of nasal bone Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of heart structure (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of sternebra Associated morphology False Congenital absence Inferred relationship Some 2
Triangular alopecia (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of cranial vault (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of pulmonary trunk with non-confluent pulmonary arteries Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of muscle AND/OR tendon Associated morphology False Congenital absence Inferred relationship Some 2
Solitary arterial trunk Associated morphology False Congenital absence Inferred relationship Some 2
Congenital alopecia Associated morphology False Congenital absence Inferred relationship Some 2
Absent aortic valve cusp (disorder) Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of premaxilla Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of gonads Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of interparietal bone Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of portal vein Associated morphology False Congenital absence Inferred relationship Some 2
Transverse arrest phalangeal level fifth ray Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of mandible Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of the spinal cord and brain Associated morphology False Congenital absence Inferred relationship Some 2
Partial defect of ulna Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of all toes Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of tibia Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of external auditory canal Associated morphology False Congenital absence Inferred relationship Some 2
Transverse arrest phalangeal level fourth ray Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of tendon Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of maxilla Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of fibula Associated morphology False Congenital absence Inferred relationship Some 2
Mullerian aplasia Associated morphology False Congenital absence Inferred relationship Some 2
Absent pulmonary trunk Associated morphology False Congenital absence Inferred relationship Some 2
Rokitansky sequence Associated morphology False Congenital absence Inferred relationship Some 2
Agenesis of tarsals and metatarsals Associated morphology False Congenital absence Inferred relationship Some 2
Agenesis of tarsals and metatarsals Associated morphology False Congenital absence Inferred relationship Some 1
Agenesis of lower vagina Associated morphology False Congenital absence Inferred relationship Some 1
Congenital absence of azygos vein Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of pituitary gland Associated morphology False Congenital absence Inferred relationship Some 2
Congenital absence of sternum Associated morphology False Congenital absence Inferred relationship Some 2

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This concept is not in any reference sets

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